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Summary Literature (0)
DOID:0060874 - isolated growth hormone deficiency type IB

Disease Ontology Definition:An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.

Synonyms: congenital IGHD type IB, congenital isolated GH deficiency type IB, congenital isolated growth hormone deficiency type IB, dwarfism of Sindh, IGHD IB

Xenbase Genes : gh1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013006 - isolated growth hormone deficiency type IB


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): isolated growth hormone deficiency (is_a)